Incidental Mutation 'R6616:Sbsn'
ID524057
Institutional Source Beutler Lab
Gene Symbol Sbsn
Ensembl Gene ENSMUSG00000046056
Gene Namesuprabasin
Synonyms1110005D19Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #R6616 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location30751471-30756134 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 30753279 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 573 (V573D)
Ref Sequence ENSEMBL: ENSMUSP00000079362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080518] [ENSMUST00000182227] [ENSMUST00000182229] [ENSMUST00000182721]
Predicted Effect possibly damaging
Transcript: ENSMUST00000080518
AA Change: V573D

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079362
Gene: ENSMUSG00000046056
AA Change: V573D

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
internal_repeat_2 27 208 2.58e-16 PROSPERO
internal_repeat_1 39 233 7e-25 PROSPERO
low complexity region 295 307 N/A INTRINSIC
low complexity region 313 325 N/A INTRINSIC
low complexity region 331 343 N/A INTRINSIC
low complexity region 349 361 N/A INTRINSIC
internal_repeat_2 380 568 2.58e-16 PROSPERO
internal_repeat_1 446 626 7e-25 PROSPERO
low complexity region 637 651 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182227
SMART Domains Protein: ENSMUSP00000138427
Gene: ENSMUSG00000046056

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 47 61 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182229
SMART Domains Protein: ENSMUSP00000138561
Gene: ENSMUSG00000046056

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 114 135 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182488
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182577
SMART Domains Protein: ENSMUSP00000138367
Gene: ENSMUSG00000046056

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182686
Predicted Effect probably benign
Transcript: ENSMUST00000182721
SMART Domains Protein: ENSMUSP00000138654
Gene: ENSMUSG00000046056

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
internal_repeat_1 26 68 1.41e-7 PROSPERO
internal_repeat_1 84 126 1.41e-7 PROSPERO
low complexity region 128 145 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A T 17: 24,384,535 H567L probably damaging Het
Adck1 T A 12: 88,461,188 M525K unknown Het
Alpi T C 1: 87,101,114 I74V possibly damaging Het
Creb5 A C 6: 53,685,310 Q197H possibly damaging Het
Cyp2b13 A G 7: 26,085,881 K225R probably benign Het
Dock1 G A 7: 135,108,492 E1143K possibly damaging Het
Eef2kmt T A 16: 5,247,482 D287V probably damaging Het
Eif2ak4 T A 2: 118,454,845 Y1046* probably null Het
Fbxw10 T A 11: 62,853,024 M252K probably benign Het
Fnip2 A C 3: 79,480,882 H847Q probably benign Het
Frmd3 A T 4: 74,187,488 D457V probably damaging Het
Gm13941 T G 2: 111,101,175 E37D unknown Het
Gm8251 C A 1: 44,061,474 V155L possibly damaging Het
Grin1 T A 2: 25,292,110 I870F possibly damaging Het
Grin2b A C 6: 135,732,551 D1332E probably benign Het
Gtpbp4 G A 13: 8,989,105 T201I possibly damaging Het
Heatr4 A G 12: 83,980,130 C118R probably benign Het
Hltf T A 3: 20,109,487 probably null Het
Hmcn1 C T 1: 150,723,257 probably null Het
Hpd A T 5: 123,172,060 L367Q probably damaging Het
Htr1b A G 9: 81,632,434 I40T probably benign Het
Il16 A G 7: 83,646,476 S464P probably benign Het
Lrp1b T A 2: 40,699,631 D75V unknown Het
Map3k4 A T 17: 12,271,344 L400Q probably damaging Het
Mcts2 T A 2: 152,687,662 I131N possibly damaging Het
Mroh2b A C 15: 4,953,282 I1528L probably benign Het
Muc4 A C 16: 32,782,008 D3467A possibly damaging Het
Mypn A T 10: 63,169,312 C339S probably damaging Het
Ncoa5 A T 2: 165,010,563 Y130* probably null Het
Olfr1381 T A 11: 49,552,041 V98E probably damaging Het
Olfr743 T A 14: 50,533,907 I165N probably benign Het
Pcdha4 A G 18: 36,953,900 T379A probably benign Het
Pkp4 C G 2: 59,350,552 Y720* probably null Het
Prl5a1 C T 13: 28,149,856 T114I probably benign Het
Rnd3 A G 2: 51,134,157 S137P probably damaging Het
Rtel1 G A 2: 181,352,786 E680K possibly damaging Het
Scaf8 A T 17: 3,168,055 L233F unknown Het
Sec23a A T 12: 58,997,155 I241K possibly damaging Het
Secisbp2l A T 2: 125,768,226 S258T probably damaging Het
Skint4 A G 4: 112,118,230 H121R possibly damaging Het
Sptbn1 T A 11: 30,124,030 E1346D probably benign Het
Srsf11 C T 3: 158,023,344 probably benign Het
Stpg4 A G 17: 87,422,696 Y74H probably damaging Het
Tenm4 G A 7: 96,553,496 R106H probably benign Het
Tmc4 A G 7: 3,671,058 V374A possibly damaging Het
Unc45b G A 11: 82,911,819 R47Q probably damaging Het
Xirp1 A G 9: 120,019,014 S268P probably damaging Het
Zfp990 A T 4: 145,537,145 I238L probably benign Het
Zswim5 A G 4: 116,986,741 D992G possibly damaging Het
Other mutations in Sbsn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01479:Sbsn APN 7 30752357 missense possibly damaging 0.90
IGL02649:Sbsn APN 7 30753258 missense probably damaging 0.96
IGL03154:Sbsn APN 7 30751728 missense possibly damaging 0.94
PIT4495001:Sbsn UTSW 7 30752966 intron probably benign
PIT4687001:Sbsn UTSW 7 30752966 intron probably benign
R0427:Sbsn UTSW 7 30752098 intron probably benign
R0892:Sbsn UTSW 7 30754819 missense possibly damaging 0.46
R1129:Sbsn UTSW 7 30753440 missense probably benign
R1388:Sbsn UTSW 7 30752151 missense probably benign 0.09
R1437:Sbsn UTSW 7 30753053 nonsense probably null
R2436:Sbsn UTSW 7 30752230 missense possibly damaging 0.53
R4020:Sbsn UTSW 7 30755965 missense probably damaging 0.98
R5485:Sbsn UTSW 7 30753117 missense possibly damaging 0.46
R5890:Sbsn UTSW 7 30753267 missense possibly damaging 0.46
R6969:Sbsn UTSW 7 30753191 missense probably benign
R7302:Sbsn UTSW 7 30751884 missense probably benign 0.34
R7455:Sbsn UTSW 7 30753177 missense possibly damaging 0.46
R8214:Sbsn UTSW 7 30751994 intron probably benign
R8225:Sbsn UTSW 7 30751994 intron probably benign
R8225:Sbsn UTSW 7 30752444 missense probably benign 0.00
R8330:Sbsn UTSW 7 30751941 missense possibly damaging 0.83
Z1088:Sbsn UTSW 7 30751751 nonsense probably null
Z1177:Sbsn UTSW 7 30752330 missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- AGTCAACCAGGCTCAAAAGG -3'
(R):5'- CTACATTCAGCAGCTGGTTGG -3'

Sequencing Primer
(F):5'- CCCATGGGGTACAGAATGGAGTC -3'
(R):5'- CAGCTGGTTGGCCTCCTTG -3'
Posted On2018-06-22